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The Myotonic Dystrophies

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Genetic Counseling for Adult Neurogenetic Disease

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Abstract

Myotonic dystrophy is a progressive, multi-systemic condition causing muscle weakness and myotonia. Additional symptoms include cataracts, gastrointestinal abnormalities, male reduced fertility, diabetes, and cardiac conduction defects. Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the DMPK gene and type 2 (DM2) by a CCTG repeat expansion in the ZNF9 gene. Whereas age of onset correlates with repeat size in DM1 with anticipation, onset and severity do not correlate well with the repeat expansion size in DM2. The non-dystrophic myotonic disorders produce myotonia without muscle weakness. These conditions are caused by mutations in ion channel genes.

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Author information

Authors and Affiliations

  1. Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota, 2101 6th St. SE MC, Minneapolis, MN, 55455, USA

    Joline Dalton

  2. Taub Institute, Columbia University Medical Center, 630 W. 168th St., Box 16, New York, NY, 10032, USA

    Jill S. Goldman

  3. Department of Neurology, Columbia University Medical Center, 630 W. 168th St., Box 16, New York, NY, 10032, USA

    Jacinda B. Sampson

Authors
  1. Joline Dalton
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  2. Jill S. Goldman
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  3. Jacinda B. Sampson
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Correspondence to Joline Dalton .

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Editors and Affiliations

  1. Taub Institute, Columbia University Medical Center, New York, New York, USA

    Jill S. Goldman

1 Electronic Supplementary Material

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Myotonic dystrophy Part 1 (MOV 301,391 kb)

Myotonic dystrophy Part 2 (MOV 259,511 kb)

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Dalton, J., Goldman, J.S., Sampson, J.B. (2015). The Myotonic Dystrophies. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_21

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